Canonical Allele Identifier: CA2493963720

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875369A= , CM000664.2:g.43875369A=	GRCh38
NC_000002.11:g.44102508A= , CM000664.1:g.44102508A=	GRCh37
NC_000002.10:g.43956012A=	NCBI36
NG_008884.1:g.41406A=
NG_008884.2:g.48428A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1712A= MANE Select	ENSP00000272286.2:p.Tyr571=
ENST00000272286.2:c.1712A=	ENSP00000272286.2:p.Tyr571=
NM_022437.2:c.1712A=	NP_071882.1:p.Tyr571=
XM_005264483.2:c.1709A=	XP_005264540.1:p.Tyr570=
XM_011533029.1:c.1724A=	XP_011531331.1:p.Tyr575=
XM_011533030.1:c.1721A=	XP_011531332.1:p.Tyr574=
XM_011533031.1:c.1496A=	XP_011531333.1:p.Tyr499=
XR_939707.1:n.2214A=
NM_001357321.1:c.1709A=	NP_001344250.1:p.Tyr570=
XM_011533029.2:c.1724A=	XP_011531331.1:p.Tyr575=
XM_011533030.2:c.1721A=	XP_011531332.1:p.Tyr574=
XR_001738891.1:n.2228A=
XR_939707.2:n.2228A=
NM_022437.3:c.1712A= MANE Select	NP_071882.1:p.Tyr571=
NM_001357321.2:c.1709A=	NP_001344250.1:p.Tyr570=